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Gynecological Endocrinology Volume 28, 2012 - Issue 3
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17,20- Hydroxylase Deficiency

Molecular study of five Chinese patients with 46XX partial 17a-hydroxylase/17,20-lyase deficiency

Qinjie TianPeking Union Medical College Hospital, Department of Obstetrics and Gynecology, Beijing, China
,
Fengxia YaoPeking Union Medical College Hospital, Clinical Research Lab, Beijing, ChinaCorrespondence[email protected]
,
Yiwen ZhangPeking Union Medical College Hospital, Department of Obstetrics and Gynecology, Beijing, China
,
Hung TsengSchool of Medicine, University of Pennsylvania, Department of Dermatology, Philadelphia, USA
&
Jinghe LangPeking Union Medical College Hospital, Department of Obstetrics and Gynecology, Beijing, China
Pages 234-238 | Received 18 Dec 2010, Accepted 11 Apr 2011, Published online: 16 Aug 2011

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Heye Chen, Yingting Chen, Hongxian Mao, Huaying Huang & Xueyong Lou. (2023) A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review. Blood Pressure 32:1.
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Eun Sil Lee, Myungshin Kim, Sungdae Moon, Dong Wook Jekarl, Seungok Lee, Yonggoo Kim & Gyu Yeon Choi. (2013) A new compound heterozygous mutation in the CYP17A1 gene in a female with 17α-hydroxylase/17,20-lyase deficiency. Gynecological Endocrinology 29:7, pages 720-723.
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Articles from other publishers (9)

Ping Pan, Lingyan Zheng, Jia Huang, Xiaoli Chen, Renmin Ni, Qingxue Zhang, Dongzi Yang & Yu Li. (2023) Endocrine profiles and cycle characteristics of infertile 17α-hydroxylase/17,20-lyase Deficiency Patients undergoing assisted Reproduction Treatment: a retrospective cohort study. Journal of Ovarian Research 16:1.
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Alice Ioana Albu, Mirela Elena Iancu & Dragos Nicolae Albu. (2023) Successful Treatment of Infertility in a Patient with Probable 17 Hydroxylase Deficiency and Particularities of Association with Adrenal Autoimmunity—A Case Report and Review of the Literature. Life 13:4, pages 921.
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Duoduo Zhang, Fengxia Yao, Min Luo, Yanfang Wang, Tiffany Tian, Shan Deng & Qinjie Tian. (2022) Clinical characteristics and molecular etiology of partial 17α-hydroxylase deficiency diagnosed in 46,XX patients. Frontiers in Endocrinology 13.
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Yanjie Xia, Panlai Shi, Junke Xia, Huijuan Zhang, Lijun Xu & Xiangdong Kong. (2021) Novel mutations of the CYP17A1 gene in four Chinese 46,XX cases with partial 17a-hydroxylase/17,20-lyase deficiency. Steroids 173, pages 108873.
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Sílvia Cristina de Sousa Paredes, Olinda Marques & Marta Alves. (2019) Partial deficiency of 17α-hydroxylase: a rare cause of congenital adrenal hyperplasia. BMJ Case Reports 12:12, pages e230778.
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Vijaya Sarathi, Ramesh Reddy, Sridevi Atluri & Channabasappa Shivaprasad. (2018) A challenging case of primary amenorrhoea. BMJ Case Reports, pages bcr-2018-225447.
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Chaoming Wu, Shanshan Fan, Yanying Qian, Yingying Zhou, Jian Jin, Zhijuan Dai & Ling Jiang. (2017) 17α-Hydroxylase/17, 20-Lyase Deficiency: Clinical and Molecular Characterization of Eight Chinese Patients. Endocrine Practice 23:5, pages 576-582.
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Luciane Carneiro de Carvalho, Vinicius Nahime Brito, Regina Matsunaga Martin, Aline Machado Zamboni, Larissa Garcia Gomes, Marlene Inácio, Livia Mara Mermejo, Fernanda Coeli-Lacchini, Virginia Ribeiro Teixeira, Fabrícia Torres Gonçalves, Alexandre José Faria Carrilho, Kenny Yelena Del Toro Camargo, Gabriela Paula Finkielstain, Giselle Fernandes Taboada, Elaine Maria Frade Costa, Sorahia Domenice & Berenice Bilharinho Mendonca. (2016) Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects. Fertility and Sterility 105:6, pages 1612-1619.
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Su Jin LeeJe Eun SongSena HwangJi-Yeon LeeHye-Sun ParkSeunghee HanYumie Rhee. (2015) Untreated Congenital Adrenal Hyperplasia with 17-α Hydroxylase/17,20-Lyase Deficiency Presenting as Massive Adrenocortical Tumor. Endocrinology and Metabolism 30:3, pages 408.
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